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Refining the structure and content of clinical genomic reports.
Dorschner MO, Amendola LM, Shirts BH, Kiedrowski L, Salama J, Gordon AS, Fullerton SM, Tarczy-Hornoch P, Byers PH, Jarvik GP. Dorschner MO, et al. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):85-92. doi: 10.1002/ajmg.c.31395. Epub 2014 Mar 10. Am J Med Genet C Semin Med Genet. 2014. PMID: 24616401 Free PMC article.
To effectively articulate the results of exome and genome sequencing we refined the structure and content of molecular test reports. ...The report format we developed to communicate research results can easily be transformed for …
To effectively articulate the results of exome and genome sequencing we refined the structure and content of mol …
Genetic diversity and characterization of rhinoviruses from Chinese clinical samples with a global perspective.
Zhao P, Shao N, Dong J, Su H, Sui H, Zhang T, Yang F. Zhao P, et al. Microbiol Spectr. 2023 Sep 21:e0084023. doi: 10.1128/spectrum.00840-23. Online ahead of print. Microbiol Spectr. 2023. PMID: 37733296
We also identified A110 as a novel type of RVA and reported its distinctive characteristics in phylogeny, secondary structure, and capsid protein structure. ...We identified a novel type of Rhinovirus (RV), A110, highlighting its unique genetic features. We a …
We also identified A110 as a novel type of RVA and reported its distinctive characteristics in phylogeny, secondary structure, …
Cultural adaptation of the Italian version of the Patient-Reported Outcomes Common Terminology Criteria for Adverse Event (PRO-CTCAE®).
Caminiti C, Bryce J, Riva S, Ng D, Diodati F, Iezzi E, Sparavigna L, Novello S, Porta C, Del Mastro L, Procopio G, Cinieri S, Falzetta A, Calabrò F, Lorusso V, Cogoni AA, Tortora G, Maruzzo M, Passalacqua R, Cognetti F, Adamo V, Capelletto E, Ferrari A, Bagnalasta M, Bassi M, Nicelli A, De Persis D, D'Acunti A, Iannelli Patient E, Perrone F, Mitchell SA. Caminiti C, et al. Tumori. 2023 Jun;109(3):324-334. doi: 10.1177/03008916221099558. Epub 2022 Jun 8. Tumori. 2023. PMID: 35674125 Free PMC article.
INTRODUCTION: US National Cancer Institute's (NCI) Patient-Reported Outcomes version of the Common Terminology Criteria for Adverse Events (PRO-CTCAE()) is a library of 78 symptom terms and 124 items enabling patient reporting of symptomatic adverse events in …
INTRODUCTION: US National Cancer Institute's (NCI) Patient-Reported Outcomes version of the Common Terminology Criteria for Ad …
Development and evaluation of a bladder Cancer specific survivorship care plan by patients and clinical care providers: a multi-methods approach.
Lee CT, Mohamed NE, Pisipati S, Shah QN, Agarwal PK, Downs TM, Droller M, Gilbert SM, Goltz HH, Hall SJ, Hendawi M, Hoffman-Censits J, O'Donnell M, Kaag M, Karsh LI, Kassouf W, Quale DZ, Sagalowsky A, Steinberg GD, Latini DM. Lee CT, et al. BMC Health Serv Res. 2020 Jul 24;20(1):686. doi: 10.1186/s12913-020-05533-7. BMC Health Serv Res. 2020. PMID: 32709234 Free PMC article.
Mean time for BC-SCP completion was 12.3 min. Providers reported that BC-SCP content was clear, did not hamper clinic flow and was readily completed with easy-to-access information. ...In summary, BC-SCPs are essential to improve the follow up care of …
Mean time for BC-SCP completion was 12.3 min. Providers reported that BC-SCP content was clear, did not hamper clinic f …
Perceptions and Usability of PREVENTION: A Breast Cancer Risk Assessment e-Platform.
Attieh S, Monarque M, Durand A, Ahmed S, Knoppers BM, Simard J, Loiselle CG. Attieh S, et al. J Pers Med. 2023 May 18;13(5):850. doi: 10.3390/jpm13050850. J Pers Med. 2023. PMID: 37241021 Free PMC article.
METHODS: Thirty women with no history of cancer were recruited through social media, commercial centers, health clinics, and community settings in Montreal, Qc, Canada. Participants accessed e-platform content tailored to their assigned hypothetical BC risk level, a …
METHODS: Thirty women with no history of cancer were recruited through social media, commercial centers, health clinics, and communit …
Mechanistic insights into the interaction of the MOG1 protein with the cardiac sodium channel Nav1.5 clarify the molecular basis of Brugada syndrome.
Yu G, Liu Y, Qin J, Wang Z, Hu Y, Wang F, Li Y, Chakrabarti S, Chen Q, Wang QK. Yu G, et al. J Biol Chem. 2018 Nov 23;293(47):18207-18217. doi: 10.1074/jbc.RA118.003997. Epub 2018 Oct 3. J Biol Chem. 2018. PMID: 30282806 Free PMC article.
Here, we assessed the effects of defined MOG1 deletions and alanine-scanning substitutions on MOG1's interaction with Na(v)1.5. Large deletion analysis mapped the MOG1 domain required for the interaction with Na(v)1.5 to the region spanning amino acids 146-174, and a re …
Here, we assessed the effects of defined MOG1 deletions and alanine-scanning substitutions on MOG1's interaction with Na(v)1.5. Large …
Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.
Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, Cheung SW, Cai WW, von Eggeling F, Mazurczak T, Bocian E, Liehr T. Pietrzak J, et al. J Appl Genet. 2007;48(2):167-75. doi: 10.1007/BF03194675. J Appl Genet. 2007. PMID: 17495351
In all three patients, the chromosome origin, structure, and euchromatin content of the sSMCs were determined. In patient RS, only a neocentric r(2)(q35q36) was identified. ...The BAC array results confirmed the molecular cytogenetic results and refined the b …
In all three patients, the chromosome origin, structure, and euchromatin content of the sSMCs were determined. In patient RS, …